PDE6H

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein-chromophore linkage (GO:0018298)8.73426606
2eye photoreceptor cell development (GO:0042462)8.37662199
3photoreceptor cell development (GO:0042461)8.30145385
4detection of light stimulus involved in visual perception (GO:0050908)7.90239638
5detection of light stimulus involved in sensory perception (GO:0050962)7.90239638
6protein neddylation (GO:0045116)7.54355153
7neutrophil activation involved in immune response (GO:0002283)7.53006509
8photoreceptor cell maintenance (GO:0045494)7.47745267
9positive regulation of guanylate cyclase activity (GO:0031284)6.77407413
10phototransduction (GO:0007602)6.66211538
11phototransduction, visible light (GO:0007603)6.49237123
12detection of visible light (GO:0009584)6.45527776
13detection of light stimulus (GO:0009583)6.30772071
14thrombin receptor signaling pathway (GO:0070493)6.26465805
15regulation of guanylate cyclase activity (GO:0031282)6.06315784
16* visual perception (GO:0007601)5.58392092
17adenosine receptor signaling pathway (GO:0001973)5.56136638
18* sensory perception of light stimulus (GO:0050953)5.55010384
19detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)5.43747222
20regulation of platelet activation (GO:0010543)5.39386236
21regulation of platelet aggregation (GO:0090330)5.30725426
22leukocyte migration involved in inflammatory response (GO:0002523)5.25226977
23triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.13723310
24regulation of integrin-mediated signaling pathway (GO:2001044)4.94140107
25blood coagulation, intrinsic pathway (GO:0007597)4.80698988
26negative regulation of macrophage derived foam cell differentiation (GO:0010745)4.69892023
27GMP metabolic process (GO:0046037)4.68226100
28platelet aggregation (GO:0070527)4.67945916
29retinal rod cell development (GO:0046548)4.65214771
30negative regulation of norepinephrine secretion (GO:0010700)4.65118461
31positive regulation of endothelial cell differentiation (GO:0045603)4.63871565
32neutrophil activation (GO:0042119)4.63512073
33detection of external stimulus (GO:0009581)4.52539361
34detection of abiotic stimulus (GO:0009582)4.50692705
35positive regulation of mast cell activation (GO:0033005)4.50324094
36photoreceptor cell differentiation (GO:0046530)4.49453336
37eye photoreceptor cell differentiation (GO:0001754)4.49453336
38low-density lipoprotein particle remodeling (GO:0034374)4.43535687
39negative regulation of platelet activation (GO:0010544)4.39550522
40negative regulation of homotypic cell-cell adhesion (GO:0034111)4.38581317
41G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)4.32925309
42granulocyte activation (GO:0036230)4.21618164
43regulation of cGMP metabolic process (GO:0030823)4.14282954
44daunorubicin metabolic process (GO:0044597)4.12960524
45polyketide metabolic process (GO:0030638)4.12960524
46doxorubicin metabolic process (GO:0044598)4.12960524
47lipoxygenase pathway (GO:0019372)4.10361274
48positive regulation of cGMP biosynthetic process (GO:0030828)4.05394162
49cellular response to light stimulus (GO:0071482)4.05067003
50estrogen biosynthetic process (GO:0006703)4.02344763
51nonmotile primary cilium assembly (GO:0035058)3.94063801
52regulation of lipoprotein metabolic process (GO:0050746)3.88166541
53negative regulation of thymocyte apoptotic process (GO:0070244)3.85489338
54negative regulation of heart rate (GO:0010459)3.84394421
55regulation of integrin activation (GO:0033623)3.82322159
56retina development in camera-type eye (GO:0060041)3.81936124
57positive regulation of receptor recycling (GO:0001921)3.81047893
58regulation of cGMP biosynthetic process (GO:0030826)3.77061125
59purinergic nucleotide receptor signaling pathway (GO:0035590)3.74223951
60angiogenesis involved in wound healing (GO:0060055)3.71091205
61detection of chemical stimulus involved in sensory perception of taste (GO:0050912)3.68786147
62regulation of Golgi to plasma membrane protein transport (GO:0042996)3.62971304
63megakaryocyte development (GO:0035855)3.62196849
64auditory receptor cell stereocilium organization (GO:0060088)3.61362739
65regulation of macrophage derived foam cell differentiation (GO:0010743)3.60360922
66positive regulation of cGMP metabolic process (GO:0030825)3.59518501
67platelet degranulation (GO:0002576)3.59090836
68regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.58557645
69G-protein coupled purinergic receptor signaling pathway (GO:0035588)3.57610895
70startle response (GO:0001964)3.51547057
71righting reflex (GO:0060013)3.49914542
72positive regulation of cAMP-mediated signaling (GO:0043950)3.49538885
73positive regulation of macrophage differentiation (GO:0045651)3.47390348
74detection of chemical stimulus involved in sensory perception (GO:0050907)3.42682640
75homotypic cell-cell adhesion (GO:0034109)3.41776192
76purinergic receptor signaling pathway (GO:0035587)3.38689681
77regulation of female receptivity (GO:0045924)3.36996558
78negative regulation of appetite (GO:0032099)3.34266604
79negative regulation of response to food (GO:0032096)3.34266604
80regulation of MHC class II biosynthetic process (GO:0045346)3.33241580
81positive regulation of blood coagulation (GO:0030194)3.32940266
82positive regulation of hemostasis (GO:1900048)3.32940266
83negative regulation of T-helper cell differentiation (GO:0045623)3.31279930
84negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.31279930
85positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.31197363
86response to pheromone (GO:0019236)3.30819540
87retina layer formation (GO:0010842)3.29387083
88fusion of sperm to egg plasma membrane (GO:0007342)3.28242285
89positive regulation of systemic arterial blood pressure (GO:0003084)3.28190763
90platelet activation (GO:0030168)3.26943265
91regulation of homotypic cell-cell adhesion (GO:0034110)3.23316548
92positive regulation of Rho protein signal transduction (GO:0035025)3.22774699
93regulation of norepinephrine secretion (GO:0014061)3.18643250
94regulation of mast cell activation (GO:0033003)3.16539254
95regulation of endothelial cell differentiation (GO:0045601)3.14357141
96negative regulation of protein localization to cell surface (GO:2000009)3.12309915
97platelet formation (GO:0030220)3.11463380
98termination of signal transduction (GO:0023021)3.10942567
99leukocyte degranulation (GO:0043299)3.10059415
100positive regulation of toll-like receptor signaling pathway (GO:0034123)3.09424170
101import into cell (GO:0098657)3.09276198
102negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.07952000
103termination of G-protein coupled receptor signaling pathway (GO:0038032)3.06683849
104negative regulation of interleukin-17 production (GO:0032700)3.06664009
105positive regulation of mast cell activation involved in immune response (GO:0033008)3.05899667
106positive regulation of mast cell degranulation (GO:0043306)3.05899667
107regulation of penile erection (GO:0060405)3.05017235
108negative regulation of heart contraction (GO:0045822)3.04749036
109regulation of mast cell degranulation (GO:0043304)3.04256319
110cellular response to radiation (GO:0071478)3.03881865
111positive regulation of coagulation (GO:0050820)2.99531801
112regulation of cholesterol efflux (GO:0010874)2.98972830
113regulation of T-helper 1 cell differentiation (GO:0045625)2.98258564
114negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)2.98188165
115female mating behavior (GO:0060180)2.97550248
116inner ear receptor stereocilium organization (GO:0060122)2.96459016
117* sensory perception (GO:0007600)2.96421844
118vitamin A metabolic process (GO:0006776)2.95353211
119negative regulation of neural precursor cell proliferation (GO:2000178)2.95226514
120polyamine biosynthetic process (GO:0006596)2.94228168
121cellular extravasation (GO:0045123)2.93997339
122superoxide anion generation (GO:0042554)2.91870772
123behavioral response to ethanol (GO:0048149)2.90833670
124peptide catabolic process (GO:0043171)2.90630790
125cyclooxygenase pathway (GO:0019371)2.88457762
126regulation of T-helper 2 cell differentiation (GO:0045628)2.88157865
127regulation of mast cell activation involved in immune response (GO:0033006)2.87795623
128autophagic vacuole fusion (GO:0000046)2.87564248
129innate immune response in mucosa (GO:0002227)2.86094645
130negative regulation of catecholamine secretion (GO:0033604)2.84516851
131* regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)2.82791634
132phagocytosis, engulfment (GO:0006911)2.82350532
133axoneme assembly (GO:0035082)2.82151593
134negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)2.78327103
135negative regulation of adherens junction organization (GO:1903392)2.76580655
136negative regulation of focal adhesion assembly (GO:0051895)2.76580655
137negative regulation of cell junction assembly (GO:1901889)2.76580655
138beta-amyloid metabolic process (GO:0050435)2.75785325
139high-density lipoprotein particle remodeling (GO:0034375)2.73518638
140extracellular fibril organization (GO:0043206)2.70576546
141mitochondrial calcium ion transport (GO:0006851)2.70333729
142myeloid cell activation involved in immune response (GO:0002275)2.69281289
143cell morphogenesis involved in neuron differentiation (GO:0048667)2.66725931
144neuron development (GO:0048666)2.66528186
145regulation of regulatory T cell differentiation (GO:0045589)2.65770610
146presynaptic membrane assembly (GO:0097105)2.55245758
147short-term memory (GO:0007614)2.54204215
148preassembly of GPI anchor in ER membrane (GO:0016254)2.53978971
149serotonin receptor signaling pathway (GO:0007210)2.50633160
150detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.47068363
151GPI anchor biosynthetic process (GO:0006506)2.46169738
152negative regulation of mast cell activation (GO:0033004)2.45954490
153protein heterotetramerization (GO:0051290)2.45858647
154detection of molecule of bacterial origin (GO:0032490)2.43531198
155post-embryonic morphogenesis (GO:0009886)2.43099486
156energy homeostasis (GO:0097009)2.42144149
157regulation of timing of cell differentiation (GO:0048505)2.40936820
158protein prenylation (GO:0018342)2.40873358
159prenylation (GO:0097354)2.40873358
160regulation of development, heterochronic (GO:0040034)2.40000362
161aminoglycoside antibiotic metabolic process (GO:0030647)2.39115584
162mesenchymal cell differentiation involved in renal system development (GO:2001012)2.38131746
163mesenchymal cell differentiation involved in kidney development (GO:0072161)2.38131746
164response to histamine (GO:0034776)2.37425657
165GPI anchor metabolic process (GO:0006505)2.36141296
166limb bud formation (GO:0060174)2.34741868
167negative regulation of synaptic transmission, GABAergic (GO:0032229)2.32844384
168response to light stimulus (GO:0009416)2.29465847
169developmental pigmentation (GO:0048066)2.29281210
170positive regulation of cellular amide metabolic process (GO:0034250)2.28664411
171cerebral cortex radially oriented cell migration (GO:0021799)2.27783210
172G-protein coupled receptor internalization (GO:0002031)2.24499600
173histone H3-K4 trimethylation (GO:0080182)2.24428393
174positive regulation of neurotransmitter transport (GO:0051590)2.21831104
175positive regulation of uterine smooth muscle contraction (GO:0070474)2.21282766
176presynaptic membrane organization (GO:0097090)2.20212953
177positive regulation of protein sumoylation (GO:0033235)2.18784354
178negative regulation of transcription regulatory region DNA binding (GO:2000678)2.18176793
179reflex (GO:0060004)2.16723675
180regulation of activation of Janus kinase activity (GO:0010533)2.16169821
181centriole assembly (GO:0098534)2.13996663
182regulation of dopamine metabolic process (GO:0042053)2.13902088
183regulation of catecholamine metabolic process (GO:0042069)2.13902088
184membrane hyperpolarization (GO:0060081)2.13873497
185negative regulation of myoblast differentiation (GO:0045662)2.11969720
186oligosaccharide catabolic process (GO:0009313)2.11941162
187adenosine metabolic process (GO:0046085)2.11645219
188cellular anion homeostasis (GO:0030002)2.11599760
189cilium organization (GO:0044782)2.10854722
190C-terminal protein amino acid modification (GO:0018410)2.10707693
191cilium assembly (GO:0042384)2.08667485
192retinal cone cell development (GO:0046549)12.9068215
193regulation of rhodopsin mediated signaling pathway (GO:0022400)11.0247924
194rhodopsin mediated signaling pathway (GO:0016056)10.6806366

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human4.26778024
2GBX2_23144817_ChIP-Seq_PC3_Human4.11156579
3SCL_19346495_ChIP-Seq_HPC-7_Human3.82781468
4LYL1_20887958_ChIP-Seq_HPC-7_Mouse3.55402639
5GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.44159704
6MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.10135272
7VDR_22108803_ChIP-Seq_LS180_Human3.03043720
8GATA1_22025678_ChIP-Seq_K562_Human2.82044753
9GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human2.75622936
10IRF8_21731497_ChIP-ChIP_J774_Mouse2.65933939
11FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.65692605
12Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.58705229
13EZH2_22144423_ChIP-Seq_EOC_Human2.57759878
14GATA1_19941826_ChIP-Seq_K562_Human2.52368774
15RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.49631203
16ZFP57_27257070_Chip-Seq_ESCs_Mouse2.48459553
17BP1_19119308_ChIP-ChIP_Hs578T_Human2.42487714
18MYB_21317192_ChIP-Seq_ERMYB_Mouse2.36260583
19PCGF2_27294783_Chip-Seq_ESCs_Mouse2.34568039
20POU3F2_20337985_ChIP-ChIP_501MEL_Human2.32344028
21GATA1_19941827_ChIP-Seq_MEL_Mouse2.27620337
22LMO2_20887958_ChIP-Seq_HPC-7_Mouse2.27075501
23GATA2_19941826_ChIP-Seq_K562_Human2.24265128
24FLI1_27457419_Chip-Seq_LIVER_Mouse2.17394949
25BMI1_23680149_ChIP-Seq_NPCS_Mouse2.16565410
26SUZ12_27294783_Chip-Seq_NPCs_Mouse2.15071277
27SPI1_23127762_ChIP-Seq_K562_Human2.11435608
28* IRF8_27001747_Chip-Seq_BMDM_Mouse2.08313939
29TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse2.08124943
30NFE2_27457419_Chip-Seq_LIVER_Mouse2.03336122
31PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.03214845
32RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.03202531
33CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.95303044
34IGF1R_20145208_ChIP-Seq_DFB_Human1.93762330
35TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.89426289
36SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.88257883
37CBX2_27304074_Chip-Seq_ESCs_Mouse1.86303791
38JARID2_20064375_ChIP-Seq_MESCs_Mouse1.85977519
39IKZF1_21737484_ChIP-ChIP_HCT116_Human1.85524686
40P300_19829295_ChIP-Seq_ESCs_Human1.85503627
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.85061830
42GATA2_21666600_ChIP-Seq_HMVEC_Human1.83434008
43IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.83375482
44NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.83257344
45NANOG_18555785_Chip-Seq_ESCs_Mouse1.82063066
46TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.79424101
47SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.79127657
48EZH2_27294783_Chip-Seq_NPCs_Mouse1.77531617
49EZH2_27304074_Chip-Seq_ESCs_Mouse1.76816933
50EED_16625203_ChIP-ChIP_MESCs_Mouse1.76350299
51GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.74649759
52SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.74548137
53EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.74299644
54PCGF2_27294783_Chip-Seq_NPCs_Mouse1.74115408
55E2F1_18555785_Chip-Seq_ESCs_Mouse1.72023513
56STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.70896822
57SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.70669743
58SUZ12_18555785_Chip-Seq_ESCs_Mouse1.70650801
59CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.69913199
60TAF15_26573619_Chip-Seq_HEK293_Human1.67604887
61RNF2_27304074_Chip-Seq_NSC_Mouse1.66755234
62CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.66538846
63STAT3_18555785_Chip-Seq_ESCs_Mouse1.63960128
64GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.63786149
65P53_22387025_ChIP-Seq_ESCs_Mouse1.63614923
66HTT_18923047_ChIP-ChIP_STHdh_Human1.62985757
67SRY_22984422_ChIP-ChIP_TESTIS_Rat1.62061851
68EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.60323632
69FUS_26573619_Chip-Seq_HEK293_Human1.58983794
70GATA1_22383799_ChIP-Seq_G1ME_Mouse1.58611078
71SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.58252581
72CMYC_18555785_Chip-Seq_ESCs_Mouse1.58023904
73ER_23166858_ChIP-Seq_MCF-7_Human1.57689587
74PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.57338390
75NMYC_18555785_Chip-Seq_ESCs_Mouse1.54424610
76P300_18555785_Chip-Seq_ESCs_Mouse1.53044789
77SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.52390972
78RUNX1_22412390_ChIP-Seq_EML_Mouse1.51878186
79* GATA1_19941827_ChIP-Seq_MEL86_Mouse1.51384316
80ELK4_26923725_Chip-Seq_MESODERM_Mouse1.50995342
81MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.50582995
82IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.48462794
83ZFX_18555785_Chip-Seq_ESCs_Mouse1.46584287
84RUNX1_27457419_Chip-Seq_LIVER_Mouse1.46287418
85SOX2_18555785_Chip-Seq_ESCs_Mouse1.46161790
86MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.44302433
87RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.43504818
88OCT4_18555785_Chip-Seq_ESCs_Mouse1.42833343
89JARID2_20075857_ChIP-Seq_MESCs_Mouse1.42271422
90SMAD4_21799915_ChIP-Seq_A2780_Human1.41648486
91SMAD_19615063_ChIP-ChIP_OVARY_Human1.41430040
92RUNX_20019798_ChIP-Seq_JUKART_Human1.41406813
93EZH2_27294783_Chip-Seq_ESCs_Mouse1.40139808
94AR_21572438_ChIP-Seq_LNCaP_Human1.39829613
95KLF4_18555785_Chip-Seq_ESCs_Mouse1.38059024
96* TAL1_26923725_Chip-Seq_HPCs_Mouse1.36283836
97RNF2_18974828_ChIP-Seq_MESCs_Mouse1.34979501
98EZH2_18974828_ChIP-Seq_MESCs_Mouse1.34979501
99PU1_27457419_Chip-Seq_LIVER_Mouse1.34712807
100ESRRB_18555785_Chip-Seq_ESCs_Mouse1.34618884
101CDX2_19796622_ChIP-Seq_MESCs_Mouse1.34068273
102PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.32873350
103PIAS1_25552417_ChIP-Seq_VCAP_Human1.32721513
104CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.32688212
105SUZ12_27294783_Chip-Seq_ESCs_Mouse1.30934228
106SMAD3_21741376_ChIP-Seq_EPCs_Human1.30485366
107SMAD1_18555785_Chip-Seq_ESCs_Mouse1.29602239
108CTCF_18555785_Chip-Seq_ESCs_Mouse1.29257490
109HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.29056067
110CTBP1_25329375_ChIP-Seq_LNCAP_Human1.27712684
111POU5F1_16153702_ChIP-ChIP_HESCs_Human1.27053131
112RNF2_27304074_Chip-Seq_ESCs_Mouse1.26840012
113TOP2B_26459242_ChIP-Seq_MCF-7_Human1.26033481
114LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.25783317
115TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23603664
116POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.23603664
117SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.23223387
118NRF2_20460467_ChIP-Seq_MEFs_Mouse1.22706467
119NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.22706467
120EWS_26573619_Chip-Seq_HEK293_Human1.20916252
121CTBP2_25329375_ChIP-Seq_LNCAP_Human1.20673036
122GATA2_22383799_ChIP-Seq_G1ME_Mouse1.19665952
123CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.19392332
124CRX_20693478_ChIP-Seq_RETINA_Mouse1.19295136
125OCT4_21477851_ChIP-Seq_ESCs_Mouse1.18932612
126SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.18317844
127* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.16208342
128KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.16188340
129AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.16041698
130KDM2B_26808549_Chip-Seq_REH_Human1.14196412
131MTF2_20144788_ChIP-Seq_MESCs_Mouse1.13412319
132STAT3_23295773_ChIP-Seq_U87_Human1.13367405
133NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.12014376
134BRD4_27068464_Chip-Seq_AML-cells_Mouse1.11281172
135PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.10620052
136* TCF4_23295773_ChIP-Seq_U87_Human1.09991758
137RUNX2_22187159_ChIP-Seq_PCA_Human1.09901614
138DROSHA_22980978_ChIP-Seq_HELA_Human1.08390315
139P53_22127205_ChIP-Seq_FIBROBLAST_Human1.08130771
140SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.07839467
141PRDM14_20953172_ChIP-Seq_ESCs_Human1.06789881
142OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.06757153
143SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.06706763
144STAT4_19710469_ChIP-ChIP_TH1__Mouse1.06228661
145TCF4_18268006_ChIP-ChIP_LS174T_Human1.05570028
146PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.03727605
147STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.03222977
148* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.02138725
149SALL4_22934838_ChIP-ChIP_CD34+_Human1.00204628
150VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.99668271
151SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.98346544
152SPI1_23547873_ChIP-Seq_NB4_Human0.97689993
153VDR_24787735_ChIP-Seq_THP-1_Human0.93270907
154ETS1_22383799_ChIP-Seq_G1ME_Mouse0.91381630
155TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.89137650
156SPI1_20517297_ChIP-Seq_HL60_Human0.88091911
157IRF8_22096565_ChIP-ChIP_GC-B_Human0.87603067
158* LMO2_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.86261325
159* GF1_26923725_Chip-Seq_HPCs_Mouse0.84859159
160PU_27001747_Chip-Seq_BMDM_Mouse0.82967417
161VDR_24763502_ChIP-Seq_THP-1_Human0.82703545
162* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.82146595
163STAT1_20625510_ChIP-Seq_HELA_Human0.81780645
164GATA3_27048872_Chip-Seq_THYMUS_Human0.81324428
165OCT1_27270436_Chip-Seq_PROSTATE_Human0.80424777
166NFYA_21822215_ChIP-Seq_K562_Human0.79495589
167RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.78978517
168TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.78973476
169AR_25329375_ChIP-Seq_VCAP_Human0.77441369
170E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.76724805
171CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.75707487
172RBPJ_21746931_ChIP-Seq_IB4_Human0.73891948
173UTX_26944678_Chip-Seq_JUKART_Human0.73875031
174HNFA_21074721_ChIP-Seq_CACO-2_Human0.73786854

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005464_abnormal_platelet_physiology7.98324974
2MP0005551_abnormal_eye_electrophysiolog6.97066599
3MP0003011_delayed_dark_adaptation6.84699240
4MP0005253_abnormal_eye_physiology4.77376210
5MP0006072_abnormal_retinal_apoptosis4.54528121
6MP0006292_abnormal_olfactory_placode3.33851815
7MP0003303_peritoneal_inflammation3.04260172
8MP0001986_abnormal_taste_sensitivity2.87093557
9MP0005195_abnormal_posterior_eye2.63276868
10MP0002638_abnormal_pupillary_reflex2.60705720
11MP0005248_abnormal_Harderian_gland2.54724913
12MP0000566_synostosis2.50949800
13MP0005423_abnormal_somatic_nervous2.50434652
14MP0003950_abnormal_plasma_membrane2.36872242
15MP0001324_abnormal_eye_pigmentation2.32366160
16MP0004510_myositis2.32067630
17MP0005391_vision/eye_phenotype2.28640775
18MP0000343_altered_response_to2.25029424
19MP0001188_hyperpigmentation2.23397141
20MP0003136_yellow_coat_color2.14899219
21MP0008004_abnormal_stomach_pH2.13066182
22MP0002102_abnormal_ear_morphology2.05024178
23MP0005167_abnormal_blood-brain_barrier2.00159225
24MP0002090_abnormal_vision1.95189855
25MP0004742_abnormal_vestibular_system1.90856713
26MP0009278_abnormal_bone_marrow1.84813187
27MP0002229_neurodegeneration1.84273444
28MP0005409_darkened_coat_color1.82119567
29MP0005397_hematopoietic_system_phenotyp1.81881575
30MP0001545_abnormal_hematopoietic_system1.81881575
31MP0001486_abnormal_startle_reflex1.81879909
32MP0005058_abnormal_lysosome_morphology1.81749555
33MP0003880_abnormal_central_pattern1.75009425
34MP0005645_abnormal_hypothalamus_physiol1.73340344
35MP0002277_abnormal_respiratory_mucosa1.71997942
36MP0000230_abnormal_systemic_arterial1.71510312
37MP0003828_pulmonary_edema1.71354340
38MP0003436_decreased_susceptibility_to1.68024810
39MP0002752_abnormal_somatic_nervous1.67941624
40MP0005171_absent_coat_pigmentation1.66509437
41MP0005000_abnormal_immune_tolerance1.65350091
42MP0001851_eye_inflammation1.57583676
43MP0004381_abnormal_hair_follicle1.51783001
44MP0003879_abnormal_hair_cell1.50804892
45MP0005646_abnormal_pituitary_gland1.47881727
46MP0003566_abnormal_cell_adhesion1.46678443
47MP0005410_abnormal_fertilization1.43763187
48MP0003638_abnormal_response/metabolism_1.43329882
49MP0001663_abnormal_digestive_system1.41229937
50MP0010155_abnormal_intestine_physiology1.40626072
51MP0002822_catalepsy1.39044732
52MP0004036_abnormal_muscle_relaxation1.33141722
53MP0001533_abnormal_skeleton_physiology1.32627191
54MP0009764_decreased_sensitivity_to1.28829710
55MP0006276_abnormal_autonomic_nervous1.28265124
56MP0001984_abnormal_olfaction1.26882750
57MP0010386_abnormal_urinary_bladder1.26000230
58MP0001502_abnormal_circadian_rhythm1.25886177
59MP0001764_abnormal_homeostasis1.23603890
60MP0002723_abnormal_immune_serum1.21802272
61MP0004084_abnormal_cardiac_muscle1.21072580
62MP0004947_skin_inflammation1.20641458
63MP0008775_abnormal_heart_ventricle1.17666353
64MP0002452_abnormal_antigen_presenting1.17399779
65MP0005083_abnormal_biliary_tract1.16999721
66MP0005025_abnormal_response_to1.14100707
67MP0002398_abnormal_bone_marrow1.13891025
68MP0001963_abnormal_hearing_physiology1.13839279
69MP0003878_abnormal_ear_physiology1.13036049
70MP0005377_hearing/vestibular/ear_phenot1.13036049
71MP0004130_abnormal_muscle_cell1.12988576
72MP0000015_abnormal_ear_pigmentation1.12444333
73MP0009697_abnormal_copulation1.10682868
74MP0009763_increased_sensitivity_to1.10385535
75MP0001800_abnormal_humoral_immune1.09729874
76MP0008872_abnormal_physiological_respon1.09573637
77MP0001905_abnormal_dopamine_level1.07711630
78MP0002882_abnormal_neuron_morphology1.06774446
79MP0000026_abnormal_inner_ear1.03716342
80MP0001879_abnormal_lymphatic_vessel1.03597043
81MP0004019_abnormal_vitamin_homeostasis1.02544103
82MP0002420_abnormal_adaptive_immunity1.01251643
83MP0002272_abnormal_nervous_system1.01224919
84MP0002132_abnormal_respiratory_system1.01113054
85MP0002998_abnormal_bone_remodeling1.00921601
86MP0002938_white_spotting0.99944583
87MP0003075_altered_response_to0.99875030
88MP0001845_abnormal_inflammatory_respons0.99751851
89MP0001819_abnormal_immune_cell0.99610122
90MP0001968_abnormal_touch/_nociception0.98383459
91MP0000249_abnormal_blood_vessel0.97402071
92MP0006054_spinal_hemorrhage0.96908203
93MP0005379_endocrine/exocrine_gland_phen0.93551778
94MP0003941_abnormal_skin_development0.93381298
95MP0002148_abnormal_hypersensitivity_rea0.93028033
96MP0004142_abnormal_muscle_tone0.92706043
97MP0002163_abnormal_gland_morphology0.92469854
98MP0002572_abnormal_emotion/affect_behav0.90268583
99MP0002733_abnormal_thermal_nociception0.89718084
100MP0002876_abnormal_thyroid_physiology0.88567940
101MP0003300_gastrointestinal_ulcer0.85753243
102MP0008058_abnormal_DNA_repair0.85666394
103MP0003656_abnormal_erythrocyte_physiolo0.85615663
104MP0005381_digestive/alimentary_phenotyp0.85327318
105MP0009765_abnormal_xenobiotic_induced0.85273403
106MP0005174_abnormal_tail_pigmentation0.84993366
107MP0002429_abnormal_blood_cell0.84076132
108MP0001835_abnormal_antigen_presentation0.83990175
109MP0009745_abnormal_behavioral_response0.83951401
110MP0005647_abnormal_sex_gland0.83664665
111MP0003724_increased_susceptibility_to0.83136272
112MP0000858_altered_metastatic_potential0.82703377
113MP0009840_abnormal_foam_cell0.82411678
114MP0000685_abnormal_immune_system0.81224326
115MP0010329_abnormal_lipoprotein_level0.81027350
116MP0005075_abnormal_melanosome_morpholog0.79905055
117MP0002736_abnormal_nociception_after0.78094961
118MP0000689_abnormal_spleen_morphology0.78030479
119MP0003787_abnormal_imprinting0.77800547
120MP0002653_abnormal_ependyma_morphology0.77717268
121MP0002067_abnormal_sensory_capabilities0.77219211
122MP0000372_irregular_coat_pigmentation0.76972744
123MP0000716_abnormal_immune_system0.76668632
124MP0000631_abnormal_neuroendocrine_gland0.76395258
125MP0009046_muscle_twitch0.75849592
126MP0002735_abnormal_chemical_nociception0.75708841
127MP0008874_decreased_physiological_sensi0.74440810
128MP0005084_abnormal_gallbladder_morpholo0.73668838
129MP0003172_abnormal_lysosome_physiology0.73404596
130MP0004782_abnormal_surfactant_physiolog0.73386774
131MP0000569_abnormal_digit_pigmentation0.73224835
132MP0001529_abnormal_vocalization0.73006369
133MP0003866_abnormal_defecation0.72974732
134MP0005671_abnormal_response_to0.72471160
135MP0001440_abnormal_grooming_behavior0.72447329
136MP0002557_abnormal_social/conspecific_i0.71848834
137MP0008260_abnormal_autophagy0.70980306
138MP0002722_abnormal_immune_system0.70475501
139MP0001485_abnormal_pinna_reflex0.70117789
140MP0001970_abnormal_pain_threshold0.69397808
141MP0008789_abnormal_olfactory_epithelium0.69146144
142MP0002064_seizures0.68000179
143MP0009785_altered_susceptibility_to0.67710846
144MP0008995_early_reproductive_senescence0.67265047
145MP0002734_abnormal_mechanical_nocicepti0.67047802
146MP0008057_abnormal_DNA_replication0.66810434
147MP0005165_increased_susceptibility_to0.66808446
148MP0010030_abnormal_orbit_morphology0.66101299
149MP0001286_abnormal_eye_development0.64172466
150MP0004215_abnormal_myocardial_fiber0.63771604
151MP0009642_abnormal_blood_homeostasis0.63369833
152MP0001346_abnormal_lacrimal_gland0.62788514
153MP0001501_abnormal_sleep_pattern0.62630658
154MP0002295_abnormal_pulmonary_circulatio0.62568205
155MP0002419_abnormal_innate_immunity0.62449445
156MP0005666_abnormal_adipose_tissue0.62314572
157MP0000678_abnormal_parathyroid_gland0.62296049
158MP0009333_abnormal_splenocyte_physiolog0.61496064
159MP0003938_abnormal_ear_development0.60170255
160MP0005197_abnormal_uvea_morphology0.60148027
161MP0000681_abnormal_thyroid_gland0.60074313
162MP0005499_abnormal_olfactory_system0.59365656
163MP0005394_taste/olfaction_phenotype0.59365656
164MP0000465_gastrointestinal_hemorrhage0.58134845
165MP0005310_abnormal_salivary_gland0.57462570
166MP0004924_abnormal_behavior0.56497385
167MP0005386_behavior/neurological_phenoty0.56497385
168MP0001790_abnormal_immune_system0.54281578
169MP0005387_immune_system_phenotype0.54281578
170MP0004885_abnormal_endolymph0.53622986
171MP0002095_abnormal_skin_pigmentation0.53470209
172MP0000920_abnormal_myelination0.52400378
173MP0000049_abnormal_middle_ear0.52294357

Predicted human phenotypes

RankGene SetZ-score
1Prolonged bleeding time (HP:0003010)9.85221233
2Congenital stationary night blindness (HP:0007642)9.72276336
3* Dyschromatopsia (HP:0007641)9.58766919
4Absent rod-and cone-mediated responses on ERG (HP:0007688)8.71183345
5Menorrhagia (HP:0000132)8.67206278
6Increased mean platelet volume (HP:0011877)8.61957542
7Petechiae (HP:0000967)8.23305716
8Abnormal platelet volume (HP:0011876)8.19045020
9Purpura (HP:0000979)7.80355371
10Abnormal rod and cone electroretinograms (HP:0008323)7.35300275
11Bony spicule pigmentary retinopathy (HP:0007737)7.18022529
12Epistaxis (HP:0000421)6.78023155
13Abnormality of macular pigmentation (HP:0008002)6.52488361
14Pigmentary retinal degeneration (HP:0001146)6.07584667
15Attenuation of retinal blood vessels (HP:0007843)5.86429891
16Gingival bleeding (HP:0000225)5.79711187
17Pendular nystagmus (HP:0012043)5.57371487
18Abolished electroretinogram (ERG) (HP:0000550)5.54503841
19Hyperlipoproteinemia (HP:0010980)5.46684552
20Impaired platelet aggregation (HP:0003540)5.05078847
21Abnormal platelet function (HP:0011869)5.05078847
22Central scotoma (HP:0000603)4.93122645
23Vitreoretinal degeneration (HP:0000655)4.68799169
24* Photophobia (HP:0000613)4.56072599
25Scotoma (HP:0000575)4.42083405
26Severe visual impairment (HP:0001141)4.28485339
27* Decreased central vision (HP:0007663)4.28175425
28Spontaneous hematomas (HP:0007420)4.24982616
29Chorioretinal atrophy (HP:0000533)4.19970986
30Abnormal pupillary function (HP:0007686)4.15621782
31Congenital sensorineural hearing impairment (HP:0008527)3.92626915
32Macular degeneration (HP:0000608)3.85240078
33Increased corneal curvature (HP:0100692)3.76140061
34Keratoconus (HP:0000563)3.76140061
35Acanthocytosis (HP:0001927)3.67847830
36Poikilocytosis (HP:0004447)3.59686797
37Choroideremia (HP:0001139)3.37524251
38Conjunctival telangiectasia (HP:0000524)3.36266387
39Type II diabetes mellitus (HP:0005978)3.35690752
40Abnormality of the vasculature of the conjunctiva (HP:0008054)3.22725871
41Retinitis pigmentosa (HP:0000510)3.21191338
42Abnormality of macrophages (HP:0004311)3.15961990
43Stomatitis (HP:0010280)3.11279262
44Abnormality of the heme biosynthetic pathway (HP:0010472)3.10066073
45Abnormality of the common coagulation pathway (HP:0010990)3.03388054
46Upper limb muscle weakness (HP:0003484)3.02384658
47Constricted visual fields (HP:0001133)3.01079100
48Paralysis (HP:0003470)2.99683651
49Cone-rod dystrophy (HP:0000548)2.99146748
50Bruising susceptibility (HP:0000978)2.96895198
51Optic disc pallor (HP:0000543)2.70492594
52Parakeratosis (HP:0001036)2.65468093
53True hermaphroditism (HP:0010459)2.59714385
54Chromosomal breakage induced by crosslinking agents (HP:0003221)2.57569196
55Increased density of long bones (HP:0006392)2.56898854
56Hepatosplenomegaly (HP:0001433)2.50990457
57Joint swelling (HP:0001386)2.48710332
58Abnormal auditory evoked potentials (HP:0006958)2.48427623
59Medial flaring of the eyebrow (HP:0010747)2.43749420
60Posterior subcapsular cataract (HP:0007787)2.41827221
61Pancreatic fibrosis (HP:0100732)2.39103572
62Abnormality of lateral ventricle (HP:0030047)2.38541228
63Xanthomatosis (HP:0000991)2.36417625
64Abnormality of iron homeostasis (HP:0011031)2.35113464
65Dynein arm defect of respiratory motile cilia (HP:0012255)2.34916174
66Absent/shortened dynein arms (HP:0200106)2.34916174
67Joint hemorrhage (HP:0005261)2.34775081
68Increased IgM level (HP:0003496)2.34246768
69Male infertility (HP:0003251)2.33341618
70Eczematoid dermatitis (HP:0000976)2.33188512
71Polar cataract (HP:0010696)2.32000982
72Decreased electroretinogram (ERG) amplitude (HP:0000654)2.30455957
73Chromsome breakage (HP:0040012)2.25752822
74Nephrogenic diabetes insipidus (HP:0009806)2.25436678
75Congenital primary aphakia (HP:0007707)2.25337933
76Gait imbalance (HP:0002141)2.23205647
77Febrile seizures (HP:0002373)2.22146101
78Septo-optic dysplasia (HP:0100842)2.17446543
79Abnormal ciliary motility (HP:0012262)2.17322068
80Progressive visual loss (HP:0000529)2.16408225
81Tinnitus (HP:0000360)2.14522174
82Duplicated collecting system (HP:0000081)2.13996485
83Spontaneous abortion (HP:0005268)2.11897703
84Episodic fever (HP:0001954)2.10588982
85Papillary thyroid carcinoma (HP:0002895)2.10470035
86Termporal pattern (HP:0011008)2.10136197
87Insidious onset (HP:0003587)2.10136197
88Pancreatic cysts (HP:0001737)2.06103149
89Abnormality of the renal collecting system (HP:0004742)2.06020395
90Recurrent abscess formation (HP:0002722)2.01220333
91Recurrent bacterial skin infections (HP:0005406)1.99101633
92Arterial thrombosis (HP:0004420)1.98712794
93Abnormality of the level of lipoprotein cholesterol (HP:0010979)1.96517516
94White forelock (HP:0002211)1.96075824
95Abnormality of transition element cation homeostasis (HP:0011030)1.95483263
96Patchy hypopigmentation of hair (HP:0011365)1.93903672
97Myocardial infarction (HP:0001658)1.93457767
98Nausea (HP:0002018)1.93444567
99Generalized aminoaciduria (HP:0002909)1.90244368
100Hypoplasia of the fovea (HP:0007750)1.88833219
101Aplasia/Hypoplasia of the fovea (HP:0008060)1.88833219
102Ventricular fibrillation (HP:0001663)1.88452392
103Encephalitis (HP:0002383)1.88023051
104Abnormality of incisor morphology (HP:0011063)1.87397307
105Abnormal respiratory motile cilium morphology (HP:0005938)1.85480690
106Abnormal respiratory epithelium morphology (HP:0012253)1.85480690
107Abnormal respiratory motile cilium physiology (HP:0012261)1.84248188
108Increased serum ferritin (HP:0003281)1.81662450
109Polycythemia (HP:0001901)1.81483187
110Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.79785930
111Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.78061105
112Chronic hepatic failure (HP:0100626)1.77147155
113Abnormality of binocular vision (HP:0011514)1.73207158
114Diplopia (HP:0000651)1.73207158
115Poor coordination (HP:0002370)1.71370799
116Genital tract atresia (HP:0001827)1.70104300
117Vaginal atresia (HP:0000148)1.69876216
118Abnormality of dental color (HP:0011073)1.68515128
119Basal ganglia calcification (HP:0002135)1.68508016
120Osteomalacia (HP:0002749)1.68490384
121Subcapsular cataract (HP:0000523)1.67256822
122Vertigo (HP:0002321)1.66380788
123Abnormality of midbrain morphology (HP:0002418)1.66261567
124Molar tooth sign on MRI (HP:0002419)1.66261567
125Aplasia/Hypoplasia of the lens (HP:0008063)1.66000016
126Hyperthyroidism (HP:0000836)1.64681062
127Thyroid-stimulating hormone excess (HP:0002925)1.63116068
128Abnormality of the fovea (HP:0000493)1.62114761
129Astigmatism (HP:0000483)1.61715657
130Retrobulbar optic neuritis (HP:0100654)1.59767658
131Optic neuritis (HP:0100653)1.59767658
132Dysostosis multiplex (HP:0000943)1.59564116
1333-Methylglutaconic aciduria (HP:0003535)1.59336001
134Autoimmune hemolytic anemia (HP:0001890)1.58100549
135Distal lower limb amyotrophy (HP:0008944)1.58015190
136Systemic lupus erythematosus (HP:0002725)1.56302309
137Dysautonomia (HP:0002459)1.55632737
138Testicular neoplasm (HP:0010788)1.55616908
139Polyphagia (HP:0002591)1.53935652
140Corneal dystrophy (HP:0001131)1.53818087
141Preaxial hand polydactyly (HP:0001177)1.53596893
142Nephronophthisis (HP:0000090)1.53586308
143Prostate neoplasm (HP:0100787)1.53431664
144Tongue fasciculations (HP:0001308)1.53122006
145Wide nasal bridge (HP:0000431)1.52887623
146Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.52262592
147Muscle fibrillation (HP:0010546)1.51754799
148Conical tooth (HP:0000698)1.50743503
149Increased cerebral lipofuscin (HP:0011813)1.50615734
150Tubulointerstitial nephritis (HP:0001970)1.50571563
151Chorioretinal coloboma (HP:0000567)1.48984502
152Retinal atrophy (HP:0001105)1.48252336
153Congenital hepatic fibrosis (HP:0002612)1.47952559
154Male pseudohermaphroditism (HP:0000037)1.46875260
155Cheilitis (HP:0100825)1.46544370
156Abnormality of the prostate (HP:0008775)1.46447326
157Optic nerve hypoplasia (HP:0000609)1.46367569
158Absent septum pellucidum (HP:0001331)1.46337149
159Abnormality of the renal medulla (HP:0100957)1.46131047
160Median cleft lip (HP:0000161)1.44596045
161Thrombocytosis (HP:0001894)1.43432800
162Recurrent sinusitis (HP:0011108)1.42908156
163Ectopic kidney (HP:0000086)1.42050217
164Postaxial foot polydactyly (HP:0001830)1.41129022
165Chest pain (HP:0100749)1.40379069
166Aplasia cutis congenita (HP:0001057)1.40334028
167Severe Myopia (HP:0011003)1.40088101
168Renal cortical cysts (HP:0000803)1.38889684
169Leiomyosarcoma (HP:0100243)1.38770641
170Uterine leiomyosarcoma (HP:0002891)1.38770641
171Leukocytosis (HP:0001974)1.38656252
172Abnormality of DNA repair (HP:0003254)1.37493438
173Obstructive lung disease (HP:0006536)1.37184832
174Chronic obstructive pulmonary disease (HP:0006510)1.37184832
175Abnormality of the septum pellucidum (HP:0007375)1.35239595
176Aganglionic megacolon (HP:0002251)1.35040270
177Stomach cancer (HP:0012126)1.34826617
178Aplasia/Hypoplasia of the tongue (HP:0010295)1.33540740
179Lip pit (HP:0100267)1.33188766

Predicted kinase interactions (KEA)

RankGene SetZ-score
1GRK15.08275314
2MST44.25954489
3BMX3.59839662
4CASK3.13652979
5PBK2.83303814
6IRAK42.63197263
7TNIK2.58615820
8STK162.51809876
9PTK2B2.44251434
10EIF2AK12.42831902
11SIK32.30260084
12ZAK2.24021596
13TXK2.22938395
14CSF1R2.10352463
15IRAK32.09238002
16INSRR2.04674541
17IRAK21.99392388
18GRK51.92296333
19ZAP701.90729728
20MAP3K141.88088215
21GRK61.84280425
22FGR1.82850334
23PINK11.82714932
24ADRBK21.73465042
25BMPR1B1.67138551
26IRAK11.63066140
27ILK1.51907808
28BMPR21.49415365
29NEK61.48032688
30MAP2K71.44951929
31HCK1.44603233
32CDK31.43529481
33YES11.41118482
34TEC1.39879801
35MKNK21.38606083
36SIK21.30985704
37MUSK1.30372719
38MAP2K31.28785716
39EIF2AK21.28639594
40GRK71.27043028
41MATK1.26681573
42BLK1.26449824
43ACVR1B1.26194256
44MAPK131.24617388
45NUAK11.24388023
46PRPF4B1.24230659
47TIE11.24079342
48CSK1.23571443
49STK31.16679773
50VRK11.11306368
51MKNK11.11130109
52DAPK31.07469621
53MAPK71.04556722
54SRPK11.03808401
55CDK81.01069564
56PAK10.98671791
57AKT30.98507781
58TAOK20.97146511
59DAPK20.95700327
60ITK0.95375891
61TNK20.95047897
62BRD40.94404540
63IKBKE0.93397855
64PLK40.90850328
65PKN10.90638620
66SGK20.90091326
67EPHA30.89758694
68RIPK40.88475087
69MAPKAPK50.86228878
70STK240.84159685
71MAPKAPK30.83309680
72ADRBK10.83058468
73RET0.82876892
74TAOK10.82177906
75IKBKB0.81674372
76MAP3K50.81098774
77CLK10.80068944
78STK390.79899591
79PRKD10.79445737
80NLK0.77293336
81MAPK150.75136208
82STK38L0.74120610
83SGK4940.73457327
84SGK2230.73457327
85PIM20.70567027
86JAK20.69579304
87ERBB20.68831618
88OXSR10.68568466
89EPHB20.67427605
90CAMKK20.65888757
91FES0.65757016
92PDK10.64625292
93MYLK0.64592461
94PRKCE0.64585667
95MAP3K120.64414252
96LMTK20.63807666
97MARK10.63565026
98DYRK1B0.62156134
99MAP3K30.61683437
100ERBB30.61469840
101PNCK0.61420302
102PRKACG0.60531202
103LCK0.59349817
104STK40.59267443
105TAOK30.58445902
106RPS6KA50.58323085
107NTRK30.57649404
108FYN0.55005577
109PDGFRB0.53131096
110ARAF0.52500743
111MAPK120.51377116
112PDPK10.51373643
113PIK3CG0.50034317
114CAMK2D0.48622552
115PLK20.48371363
116LYN0.48276583
117BCR0.47018846
118PRKCD0.45924947
119CHEK20.45250491
120FER0.45187920
121KIT0.44912704
122MINK10.44369096
123PIM10.43472853
124PRKD20.43062749
125CAMK2A0.42238786
126HIPK20.41603278
127TESK20.41428143
128JAK10.40671547
129SGK30.38155008
130PRKG10.37879199
131TLK10.37697717
132MAP3K60.37502684
133JAK30.36476770
134PRKAA20.36040260
135CHUK0.35862412
136CAMK10.35633587
137PKN20.34912441
138WNK10.34020501
139TTK0.33687780
140DYRK1A0.33581394
141CSNK1D0.33461322
142CSNK1A1L0.33256555
143PRKCB0.33050861
144MARK30.32825399
145CAMK1G0.32407386
146SGK10.32395086
147PRKACA0.32208537
148DYRK30.31667449
149GSK3A0.31400939
150TRPM70.30574876
151ATR0.30426951
152MAP4K10.30204587
153PRKCQ0.29472806
154SYK0.29336553
155PRKCA0.28567052
156PLK30.28365493
157CAMK2B0.26386526
158DYRK20.26306680
159BTK0.26231393
160DDR20.25644250
161MAP2K10.24568146
162ABL10.24127497
163TGFBR20.23998411
164SRC0.23301637
165DAPK10.22948199

Predicted pathways (KEGG)

RankGene SetZ-score
1Platelet activation_Homo sapiens_hsa046114.56818561
2Pathogenic Escherichia coli infection_Homo sapiens_hsa051302.77798893
3Phototransduction_Homo sapiens_hsa0474412.5073089
4Systemic lupus erythematosus_Homo sapiens_hsa053221.96916713
5Nitrogen metabolism_Homo sapiens_hsa009101.86780263
6Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.77338936
7Alcoholism_Homo sapiens_hsa050341.70443684
8Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.53819859
9Gap junction_Homo sapiens_hsa045401.50035289
10Staphylococcus aureus infection_Homo sapiens_hsa051501.48240726
11ECM-receptor interaction_Homo sapiens_hsa045121.46132727
12Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.45161193
13B cell receptor signaling pathway_Homo sapiens_hsa046621.43210539
14Vascular smooth muscle contraction_Homo sapiens_hsa042701.41434878
15Fanconi anemia pathway_Homo sapiens_hsa034601.36409317
16Nicotine addiction_Homo sapiens_hsa050331.35676499
17Serotonergic synapse_Homo sapiens_hsa047261.30446558
18SNARE interactions in vesicular transport_Homo sapiens_hsa041301.21696257
19Sphingolipid metabolism_Homo sapiens_hsa006001.20520694
20Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.20364868
21Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.19673039
22Graft-versus-host disease_Homo sapiens_hsa053321.19235180
23Endocytosis_Homo sapiens_hsa041441.17521136
24Morphine addiction_Homo sapiens_hsa050321.11915486
25Olfactory transduction_Homo sapiens_hsa047401.10310669
26Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.08478925
27Phospholipase D signaling pathway_Homo sapiens_hsa040721.07570510
28Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.07415713
29Rheumatoid arthritis_Homo sapiens_hsa053231.06860236
30Autoimmune thyroid disease_Homo sapiens_hsa053201.05988416
31Shigellosis_Homo sapiens_hsa051311.03519245
32NF-kappa B signaling pathway_Homo sapiens_hsa040641.01741002
33Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.00752576
34Allograft rejection_Homo sapiens_hsa053301.00751586
35Ether lipid metabolism_Homo sapiens_hsa005650.98810668
36Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.98305928
37Legionellosis_Homo sapiens_hsa051340.97407336
38Basal transcription factors_Homo sapiens_hsa030220.97063735
39Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.96588597
40Leukocyte transendothelial migration_Homo sapiens_hsa046700.96086227
41Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.95372889
42Pancreatic secretion_Homo sapiens_hsa049720.94018863
43Non-small cell lung cancer_Homo sapiens_hsa052230.92659877
44Glutamatergic synapse_Homo sapiens_hsa047240.92637457
45Intestinal immune network for IgA production_Homo sapiens_hsa046720.91477659
46Arachidonic acid metabolism_Homo sapiens_hsa005900.89920473
47Homologous recombination_Homo sapiens_hsa034400.89140762
48* Purine metabolism_Homo sapiens_hsa002300.88468215
49GABAergic synapse_Homo sapiens_hsa047270.86473148
50Primary immunodeficiency_Homo sapiens_hsa053400.86401533
51Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.85586980
52Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.84481497
53RNA polymerase_Homo sapiens_hsa030200.84120721
54Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.83843369
55Taste transduction_Homo sapiens_hsa047420.83015153
56Lysosome_Homo sapiens_hsa041420.82578646
57Regulation of actin cytoskeleton_Homo sapiens_hsa048100.80717443
58Hematopoietic cell lineage_Homo sapiens_hsa046400.79798193
59Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.78981263
60Synaptic vesicle cycle_Homo sapiens_hsa047210.78477936
61Adipocytokine signaling pathway_Homo sapiens_hsa049200.77886004
62Sulfur metabolism_Homo sapiens_hsa009200.76100927
63Asthma_Homo sapiens_hsa053100.75872298
64Salmonella infection_Homo sapiens_hsa051320.75314626
65Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.75312152
66Retinol metabolism_Homo sapiens_hsa008300.74860915
67Protein export_Homo sapiens_hsa030600.74799106
68Circadian rhythm_Homo sapiens_hsa047100.74769341
69Non-homologous end-joining_Homo sapiens_hsa034500.74698401
70Fatty acid elongation_Homo sapiens_hsa000620.74590468
71Glycerolipid metabolism_Homo sapiens_hsa005610.74483236
72T cell receptor signaling pathway_Homo sapiens_hsa046600.73354357
73Amoebiasis_Homo sapiens_hsa051460.71999689
74Oxidative phosphorylation_Homo sapiens_hsa001900.69836067
75Cholinergic synapse_Homo sapiens_hsa047250.66942098
76Pancreatic cancer_Homo sapiens_hsa052120.65061396
77Circadian entrainment_Homo sapiens_hsa047130.65006083
78Glutathione metabolism_Homo sapiens_hsa004800.64641426
79Choline metabolism in cancer_Homo sapiens_hsa052310.64614286
80Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.62507622
81Rap1 signaling pathway_Homo sapiens_hsa040150.62202813
82Mismatch repair_Homo sapiens_hsa034300.61637208
83Toll-like receptor signaling pathway_Homo sapiens_hsa046200.60430424
84NOD-like receptor signaling pathway_Homo sapiens_hsa046210.59299039
85Long-term depression_Homo sapiens_hsa047300.58975674
86Linoleic acid metabolism_Homo sapiens_hsa005910.58469309
87Viral carcinogenesis_Homo sapiens_hsa052030.58267053
88Calcium signaling pathway_Homo sapiens_hsa040200.58116492
89Collecting duct acid secretion_Homo sapiens_hsa049660.58049280
90Complement and coagulation cascades_Homo sapiens_hsa046100.57707929
91Measles_Homo sapiens_hsa051620.56796447
92Vitamin digestion and absorption_Homo sapiens_hsa049770.54620337
93ABC transporters_Homo sapiens_hsa020100.54485532
94PPAR signaling pathway_Homo sapiens_hsa033200.53901695
95Other glycan degradation_Homo sapiens_hsa005110.53127417
96RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.51116838
97Galactose metabolism_Homo sapiens_hsa000520.49951549
98alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.48914030
99Ovarian steroidogenesis_Homo sapiens_hsa049130.48589793
100VEGF signaling pathway_Homo sapiens_hsa043700.48034141
101Mineral absorption_Homo sapiens_hsa049780.47733351
102Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.46607843
103Malaria_Homo sapiens_hsa051440.46059819
104African trypanosomiasis_Homo sapiens_hsa051430.45430494
105Starch and sucrose metabolism_Homo sapiens_hsa005000.45318499
106Axon guidance_Homo sapiens_hsa043600.44939077
107Focal adhesion_Homo sapiens_hsa045100.44260735
108Chemokine signaling pathway_Homo sapiens_hsa040620.42932829
109Ras signaling pathway_Homo sapiens_hsa040140.42619548
110RNA degradation_Homo sapiens_hsa030180.41282306
111Cocaine addiction_Homo sapiens_hsa050300.40875152
112Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.40799749
113Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.40721116
114Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.40333087
115Glioma_Homo sapiens_hsa052140.39943745
116Leishmaniasis_Homo sapiens_hsa051400.39513797
117Small cell lung cancer_Homo sapiens_hsa052220.39315958
118Endometrial cancer_Homo sapiens_hsa052130.37454481
119Dopaminergic synapse_Homo sapiens_hsa047280.37160998
120Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.37089835
121Phagosome_Homo sapiens_hsa041450.36948808
122Apoptosis_Homo sapiens_hsa042100.36153314
123cAMP signaling pathway_Homo sapiens_hsa040240.36111618
124Phosphatidylinositol signaling system_Homo sapiens_hsa040700.35755113
125Caffeine metabolism_Homo sapiens_hsa002320.35130701
126Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.34629610
127Transcriptional misregulation in cancer_Homo sapiens_hsa052020.33723308
128Herpes simplex infection_Homo sapiens_hsa051680.33603682
129Jak-STAT signaling pathway_Homo sapiens_hsa046300.33249635
130Huntingtons disease_Homo sapiens_hsa050160.33051217
131Type I diabetes mellitus_Homo sapiens_hsa049400.32713584
132Insulin secretion_Homo sapiens_hsa049110.31035702
133Steroid hormone biosynthesis_Homo sapiens_hsa001400.30635571
134Pyrimidine metabolism_Homo sapiens_hsa002400.30513180
135Steroid biosynthesis_Homo sapiens_hsa001000.30043667
136Alzheimers disease_Homo sapiens_hsa050100.29944429
137Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.29664405
138Salivary secretion_Homo sapiens_hsa049700.28241525
139Tuberculosis_Homo sapiens_hsa051520.28132923
140Melanoma_Homo sapiens_hsa052180.27311611
141Nucleotide excision repair_Homo sapiens_hsa034200.26527841
142Base excision repair_Homo sapiens_hsa034100.26112572
143Wnt signaling pathway_Homo sapiens_hsa043100.25148655
144Pertussis_Homo sapiens_hsa051330.23987755
145TNF signaling pathway_Homo sapiens_hsa046680.23962585
146Regulation of autophagy_Homo sapiens_hsa041400.23734597
147Osteoclast differentiation_Homo sapiens_hsa043800.23347437
148Inositol phosphate metabolism_Homo sapiens_hsa005620.22521756
149Renin secretion_Homo sapiens_hsa049240.21923235
150Parkinsons disease_Homo sapiens_hsa050120.21601157

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